Dominant carpotarsal osteochondromatosis. Issue 8 (August 1993)

• Record Type: Journal Article
• Authors: Maroteaux, P; Le Merrer, M; Bensahel, H; Freisinger, P
• Is Part Of: Journal of medical genetics. Volume 30:Issue 8(1993)
• Page Start: 704
• Page End: 706
• Publication Date: 1993-08
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.30.8.704
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : Dominant carpotarsal osteochondromatosis is a particular disorder of the wrist and tibiotalar joints with abnormal bone proliferation and osteochondromas. Two patients, a mother and son, are described here; a similar condition has previously been described in seven affected members of a family. The upper and the lower limbs are affected in the same patient and the lesion can be bilateral. Autosomal dominant inheritance is a further criterion allowing the diagnosis of dysplasia epiphysealis hemimelica.